FAR2

Chr 12

fatty acyl-CoA reductase 2

Also known as: HEL-S-81, MLSTD1, SDR10E2

NCBI Gene: 55711 ENSG00000064763 UniProt: Q96K12 OMIM: 616156

The FAR2 protein is a peroxisomal reductase that catalyzes the reduction of fatty acyl-CoA to fatty alcohols, which are essential substrates for ether lipid and plasmalogen synthesis. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and hearing loss, typically presenting in early childhood. This gene shows moderate constraint against loss-of-function variants, suggesting intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.43

LOEUF

Mechanism· predicted